枣庄市新生儿串联质谱遗传代谢病筛查结果分析  

Screening results of tandem mass spectrometry for neonatal genetic metabolic diseases in Zaozhuang

作　　者：赵妍 沈洁[1] 张磊[1] 甘信辉[1] ZHAO Yan;SHEN Jie;ZHANG Lei;GAN Xinhui(Neonatal Disease Screening Department,Maternity and Child Health Care of Zaozhuang,Zaozhuang,Shandong 277000,China)

机构地区：[1]枣庄市妇幼保健院新生儿疾病筛查科,山东枣庄277000

出　　处：《中国优生与遗传杂志》2024年第12期2659-2662,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析总结枣庄市新生儿串联质谱遗传代谢病的筛查结果。方法回顾性分析2015年1月至2023年12月在枣庄市进行串联质谱遗传代谢病筛查的183741例新生儿的筛查结果,分析枣庄市遗传代谢病发病特点及患儿基因型等。结果自2015年1月至2023年12月期间,枣庄市筛查并确诊73例遗传代谢病新生儿,以氨基酸代谢疾病为主(达49例),其次是有机酸代谢疾病(19例)及脂肪酸代谢疾病(5例),其发病率分别为1/3750、1/9671和1/36748,总体遗传代谢病发病率为1/2517。共确诊疾病8种,其中发病率较高的为高苯丙氨酸血症和甲基丙二酸血症,发病率分别为1/4374和1/11484。65例患儿进行基因检测,高苯丙氨酸血症患儿以PAH基因突变为主,占94.29%,其中c.158G>A(p.R53H)突变位点检出率最高。合并型甲基丙二酸血症患儿以MMACHC基因c.609G>A(p.W203X)突变位点为主;单纯型甲基丙二酸血症患儿以MMUT基因c.1663G>A(p.A555T)突变位点为主。结论枣庄市新生儿遗传代谢病发病率为1/2517,以高苯丙氨酸血症和甲基丙二酸血症的发病率较高,并分别以PAH和MMACHC基因突变为主。Objective To analyse the screening results of neonatal inherited metabolic diseases by tandem mass spectrometry in Zaozhuang.Methods A retrospective analysis was conducted on the screening data of 183741 newborns for inherited metabolic diseases by tandem mass spectrometry in Zaozhuang from January 2015 to December 2023.The incidence characteristics and the genotypes in Zaozhuang were analyzed.Results From January 2015 to December 2023,a total of 73 neonates were diagnosed with inherited metabolic diseases,including 49 cases of amino acid disorders,19 cases of organic acid disorders,and 5 cases of fatty acid disorders,with incidence rates of 1/3750,1/9671,and 1/36748,respectively.The overall incidence rate was 1/2517.Eight diseases were diagnosed,with higher incidence rates observed for hyperphenylalaninemia and methylmalonic acidemia,at 1/4374 and 1/11484,respectively.Genetic testing was performed on 65 infants.PAH gene mutation was the main mutation in hyperphenylalaninemia(94.29%),c.158G>A(p.R53H)mutation site had the highest detection rate.The MMACHC gene c.609G>A(p.W203X)mutation site was the main site in combined methylmalonic acidemia,while mainly the MMUT gene c.1663G>A(p.A555T)mutation site with isolated methylmalonic acidemia.Conclusion The incidence rate of neonatal inherited metabolic diseases in Zaozhuang is 1/2517,with higher incidence rates for hyperphenylalaninemia and methylmalonic acidemia,primarily associated with mutations in the PAH and MMACHC genes,respectively.

关 键 词：遗传代谢病 新生儿筛查 串联质谱 

分 类 号：R722.1[医药卫生—儿科]